Variant report

Variant	rs7327112
Chromosome Location	chr13:97776692-97776693
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10161888	0.87[EUR][1000 genomes]
rs16953867	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3891672	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55669814	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55736008	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59939527	0.80[EUR][1000 genomes]
rs7317617	0.87[EUR][1000 genomes]
rs7326670	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7329164	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7332122	0.87[EUR][1000 genomes]
rs7335512	0.84[EUR][1000 genomes]
rs7339217	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73553557	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74107562	0.80[EUR][1000 genomes]
rs7984448	0.87[EUR][1000 genomes]
rs7988970	0.87[EUR][1000 genomes]
rs9284175	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs947452	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9582110	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9584506	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832693	chr13:97594845-97777481	Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1053686	chr13:97771607-97802296	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:97766800-97778200	Weak transcription	Esophagus	oesophagus
2	chr13:97767800-97777200	Weak transcription	Fetal Kidney	kidney
3	chr13:97768000-97777000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr13:97769000-97778400	Weak transcription	Right Atrium	heart
5	chr13:97770200-97777200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr13:97770400-97777000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr13:97770800-97777400	Weak transcription	Psoas Muscle	Psoas
8	chr13:97771400-97777800	Enhancers	HMEC	breast
9	chr13:97771400-97779600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr13:97772400-97778800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr13:97772600-97777400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr13:97772800-97777400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr13:97772800-97779000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr13:97773000-97777600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr13:97773200-97778200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr13:97773400-97777000	Enhancers	Fetal Lung	lung
17	chr13:97773400-97779000	Enhancers	HSMMtube	muscle
18	chr13:97773400-97779600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr13:97773600-97777400	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr13:97773600-97779200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr13:97774000-97777600	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr13:97774000-97784400	Enhancers	Placenta	Placenta
23	chr13:97774200-97776800	Weak transcription	Fetal Intestine Large	intestine
24	chr13:97774200-97777000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr13:97774200-97777200	Enhancers	Hela-S3	cervix
26	chr13:97774800-97777400	Enhancers	Brain Cingulate Gyrus	brain
27	chr13:97774800-97777400	Enhancers	Brain Hippocampus Middle	brain
28	chr13:97775000-97776800	Weak transcription	Fetal Brain Male	brain
29	chr13:97775000-97777000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr13:97775000-97777000	Weak transcription	Fetal Intestine Small	intestine
31	chr13:97775200-97776800	Weak transcription	Brain Germinal Matrix	brain
32	chr13:97775200-97776800	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr13:97775200-97777400	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr13:97775200-97777600	Weak transcription	Stomach Mucosa	stomach
35	chr13:97775400-97777000	Weak transcription	Fetal Heart	heart
36	chr13:97775400-97777400	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr13:97775400-97777600	Enhancers	HSMM	muscle
38	chr13:97775400-97777800	Enhancers	A549	lung
39	chr13:97775600-97777000	Enhancers	Ovary	ovary
40	chr13:97775600-97777200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr13:97775600-97779200	Enhancers	Lung	lung
42	chr13:97775800-97777200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr13:97775800-97777200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr13:97775800-97777200	Weak transcription	NHEK	skin
45	chr13:97775800-97777400	Weak transcription	Osteobl	bone
46	chr13:97775800-97779200	Enhancers	Brain Angular Gyrus	brain
47	chr13:97776000-97776800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr13:97776000-97777000	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr13:97776000-97777200	Weak transcription	NH-A	brain
50	chr13:97776000-97781200	Enhancers	Placenta Amnion	Placenta Amnion

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